46，XY性别发育异常儿童的病例分析

Clinical analyses of 46, XY disorders of sex development

目的探讨儿童46，XY性别发育异常诊疗策略。方法回顾性分析2011年9月至2016年3月我院诊断为46，XY DSD的79例患儿的临床资料，包括一般情况、实验室检查、影像学检查、病理结果及部分基因检测结果，总结其临床特点。79例患儿中社会性别男73例（92．4％），女6例（7．6％），平均年龄3岁。外生殖器完全女性化2例，完全男性生殖器4例，模糊外生殖器73例。79例患儿行染色体检查检查结果均为46，XY，SRY阳性。结果17例行腹腔镜或开放性腺活检取病理，18例行HCG刺激试验，7例行性别发育基因筛查。其中部分性腺发育不良4例；混合性腺发育不良1例；睾酮合成障碍2例；雄激素不敏感3例；Kallmann综合征1例；5α还原酶缺乏1例；睾丸消失综合征7例；苗勒管永存综合征4例；阴囊及会阴型尿道下裂56例。结论46，XY DSD病因复杂多样，正确的诊断和治疗对患儿身心健康极为重要，刺激实验、性腺探查活检、基因检测有助于明确诊断。

Objective To explore the etiology and clinical management of 46, XY disorders of sex development （DSD）. Methods A retrospective study was performed for 79 hospitalized 46, XY DSD patients from September 2011 to March 2016. Their clinical data were analyzed. And the relevant genes were sequenced for detecting gene mutations. Among them, all belonged to genetic males and their external genitalias were ambiguous （n = 73）, female （n = 2） and male （n = 4）. The social genders were male （n = 73,92.4%） and female （n = 6,7. 6%）. Their average age was 3 years old. Results In 17 patients, open or laparoscopic exploration was performed with biopsy of gonads for histological evaluations. In another 18 patients, human chorionic gonadotropin （HCG） stimulation test was performed for assessing testicular functions. Gene analyses were performed, including partial gonadal dysgenesis （n = 4）, mixed gonadal dysgenesis （n = 1）, disorders of androgen synthesis （17β- hydoxysteroid dehydrogenase） （n = 2）, androgen insensitivity syndrome （n = 3）, persistent Mullerian duct syndrome （n = 4）, 5a-reductase deficiency （n = 1 ）, Kallmann syndrome （n = 1 ）, vanishing testes syndrome （n = 7） and hypospadias （n = 56）. Conclusions Phenotypic appearances and presentations of DSD are highly variable among 46, XY individuals. Early gender assignments, correct diagnosis, proper parental education, individualized multi-disciplinary treatment, psychological care and full disclosure of alternatives relating to surgical approaches and timing are essential. And HCG stimulation test, open or laparoscopic exploration with biopsy of gonads and gene testing may aid the diagnosis.